ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1017+3G>A

dbSNP: rs554196702
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001909572 SCV002184016 uncertain significance Familial hemiplegic migraine 2022-01-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has been observed in individual(s) with clinical features of ATP1A2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the ATP1A2 gene. It does not directly change the encoded amino acid sequence of the ATP1A2 protein. It affects a nucleotide within the consensus splice site.

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